Canonical Allele Identifier: CA399313821

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143305516
• MyVariant Identifiers: chr17:g.37884119T>C (hg19) ; chr17:g.39727866T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727866T>C , CM000679.2:g.39727866T>C	GRCh38
NC_000017.10:g.37884119T>C , CM000679.1:g.37884119T>C	GRCh37
NC_000017.9:g.35137645T>C	NCBI36
NG_007503.1:g.44727T>C , LRG_724:g.44727T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3590T>C MANE Select	ENSP00000269571.4:p.Leu1197Ser
ENST00000269571.9:c.3590T>C	ENSP00000269571.4:p.Leu1197Ser
ENST00000406381.6:c.3500T>C	ENSP00000385185.2:p.Leu1167Ser
ENST00000445658.6:c.2762T>C	ENSP00000404047.2:p.Leu921Ser
ENST00000541774.5:c.3545T>C	ENSP00000446466.1:p.Leu1182Ser
ENST00000578373.5:c.*3380T>C	ENSP00000463427.1:n.*3380T>C
ENST00000584450.5:c.*169T>C	ENSP00000463714.1:n.*169T>C
ENST00000584601.5:c.3500T>C	ENSP00000462438.1:p.Leu1167Ser
NM_001005862.2:c.3500T>C , LRG_724t1:c.3500T>C	NP_001005862.1:p.Leu1167Ser
NM_001289936.1:c.3545T>C , LRG_724t4:c.3545T>C	NP_001276865.1:p.Leu1182Ser
NM_001289937.1:c.*169T>C	NP_001276866.1:n.*169T>C
NM_004448.3:c.3590T>C , LRG_724t2:c.3590T>C	NP_004439.2:p.Leu1197Ser
NR_110535.1:n.3914T>C
XM_024450641.1:c.3728T>C	XP_024306409.1:p.Leu1243Ser
XM_024450642.1:c.3683T>C	XP_024306410.1:p.Leu1228Ser
XM_024450643.1:c.3638T>C	XP_024306411.1:p.Leu1213Ser
NM_001005862.3:c.3500T>C	NP_001005862.1:p.Leu1167Ser
NM_001289936.2:c.3545T>C	NP_001276865.1:p.Leu1182Ser
NM_001289937.2:c.*169T>C	NP_001276866.1:n.*169T>C
NM_001382782.1:c.3500T>C	NP_001369711.1:p.Leu1167Ser
NM_001382783.1:c.3500T>C	NP_001369712.1:p.Leu1167Ser
NM_001382784.1:c.3707T>C	NP_001369713.1:p.Leu1236Ser
NM_001382785.1:c.3692T>C	NP_001369714.1:p.Leu1231Ser
NM_001382786.1:c.3671T>C	NP_001369715.1:p.Leu1224Ser
NM_001382787.1:c.3665T>C	NP_001369716.1:p.Leu1222Ser
NM_001382788.1:c.3620T>C	NP_001369717.1:p.Leu1207Ser
NM_001382789.1:c.3611T>C	NP_001369718.1:p.Leu1204Ser
NM_001382790.1:c.3587T>C	NP_001369719.1:p.Leu1196Ser
NM_001382791.1:c.3581T>C	NP_001369720.1:p.Leu1194Ser
NM_001382792.1:c.3554T>C	NP_001369721.1:p.Leu1185Ser
NM_001382793.1:c.3548T>C	NP_001369722.1:p.Leu1183Ser
NM_001382794.1:c.3548T>C	NP_001369723.1:p.Leu1183Ser
NM_001382795.1:c.3542T>C	NP_001369724.1:p.Leu1181Ser
NM_001382796.1:c.3503T>C	NP_001369725.1:p.Leu1168Ser
NM_001382797.1:c.3491T>C	NP_001369726.1:p.Leu1164Ser
NM_001382798.1:c.3434T>C	NP_001369727.1:p.Leu1145Ser
NM_001382799.1:c.3410T>C	NP_001369728.1:p.Leu1137Ser
NM_001382800.1:c.3404T>C	NP_001369729.1:p.Leu1135Ser
NM_001382801.1:c.3386T>C	NP_001369730.1:p.Leu1129Ser
NM_001382802.1:c.3332T>C	NP_001369731.1:p.Leu1111Ser
NM_001382803.1:c.*169T>C	NP_001369732.1:n.*169T>C
NM_001382804.1:c.2762T>C	NP_001369733.1:p.Leu921Ser
NM_001382805.1:c.2639T>C	NP_001369734.1:p.Leu880Ser
NM_001382806.1:c.2552T>C	NP_001369735.1:p.Leu851Ser
NM_004448.4:c.3590T>C MANE Select	NP_004439.2:p.Leu1197Ser
NR_110535.2:n.3828T>C